Varaico: Literature-Extracted Genetic Variants

Gene:COL4A3
Variant:p.G142S
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COL4A3

NM_000091.5:p.G142S

Associated Papers

Impact of Age-3 Urine Screening on Diagnosis and Treatment Timing in Alport Syndrome.

Kitakado H et al.

Kidney International Reports, 2025

41426028 (PubMed )
Supplement: mmc1.pdf

Genetic Diagnosis of Adult Hemodialysis Patients With Unknown Etiology.

Fujimaru T et al.

Kidney International Reports, 2024

38765603 (PubMed )
Supplement: mmc1.pdf

Polygenic risk alters the penetrance of monogenic kidney disease.

Khan A et al.

Nature Communications, 2023

38097619 (PubMed )
Supplement: 41467_2023_43878_MOESM5_ESM.xlsx › M3

Polygenic risk affects the penetrance of monogenic kidney disease.

Khan A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37214819 (PubMed )
Supplement: media-2.xlsx › M3
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."